Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.610 Biomarker disease GENOMICS_ENGLAND A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient. 29270977 2018
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.610 Biomarker disease GENOMICS_ENGLAND Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658 2015
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.610 Biomarker disease GENOMICS_ENGLAND Prenatal diagnosis of Aicardi-Goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy. 25542954 2015
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.610 Biomarker disease GENOMICS_ENGLAND A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. 25620204 2015
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.610 Biomarker disease GENOMICS_ENGLAND Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.610 GeneticVariation disease UNIPROT Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. 24686847 2014
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.610 GeneticVariation disease UNIPROT Aicardi-Goutières syndrome is caused by IFIH1 mutations. 24995871 2014
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1 		0.610 Biomarker disease GENOMICS_ENGLAND